1/41. An unusual manifestation of diabetes mellitus.MEDICAL history: Type 2 diabetes mellitus for five years; unexplained 35-lb weight loss three years ago; Bell's palsy on right side many years ago. MEDICATIONS: glipizide, 10 mg/day. family history: Father died of leukemia at age 65; mother has kidney stones; no diabetes or neuromuscular disease. SOCIAL history: insurance salesman; heterosexual, promiscuous, uses condoms; smokes (25 pack years); does not drink. physical examination: Well-nourished, well developed, not in acute distress; had difficulty rising from a sitting position because of right lower extremity weakness. blood pressure, 154/74; pulse, 88; temperature, 36.6 degrees C; respiratory rate, 16. Head, eyes, ears, nose, and throat: normal. neck: normal. Heart: S4. Lungs: clear. abdomen: mildly obese. extremities: no cyanosis, clubbing, or edema; atrophy and weakness of right thigh and both calves; wide-based gait; able to walk on toes but not heels. Neurologic responses: cranial nerves intact; deep tendon reflexes, 1 symmetrically; plantar reflexes, flexor bilaterally. skin: macular rash in sun-exposed areas. LABORATORY FINDINGS: Hemoglobin, 13.2 gm/dL; mean corpuscular volume, 80 micron 3; white blood cell count, 7,200/mm3 (normal differential); platelet count, 137,000/mm3. serum: electrolytes, normal; blood urea nitrogen, 18 mg/dL; creatinine, 0.8 mg/dL; glucose, 308 mg/dL; total protein, albumin, liver enzymes, and creatine kinase, normal. urine: 1 glucose. Venereal disease test: nonreactive; hiv test: negative. DIFFERENTIAL DIAGNOSIS: dermatomyositis; heavy-metal poisoning; diabetic amyotrophy. HOSPITAL COURSE: The patient was given 50 mg/day of oral amitriptyline to alleviate the painful paresthesias and was switched to 20 U/day of subcutaneously injected neutral protamine Hagedorn (NPH) insulin to normalize the blood glucose level. Histologic studies of skin and muscle showed sun damage and neuropathic changes, respectively. There was no evidence of vasculitis. Screening for heavy-metal toxins produced negative results.- - - - - - - - - - ranking = 1keywords = gait (Clic here for more details about this article) |
2/41. Two cases of prenatal analysis for the pathogenic T to G substitution at nucleotide 8993 in mitochondrial dna.We report the outcome of two prenatal analyses for the T to G mutation at nucleotide 8993 in the mitochondrial dna. This mutation is associated with neurogenic muscle weakness, ataxia and retinitis pigmentosa (NARP) and the neurodegenerative condition, Leigh syndrome. One prospective mother was the sister of a severely affected individual, and had previously had an unaffected child and a stillborn child. The second prospective mother had two unaffected children and two affected children. The mutation was not detected in the chorionic villus sample from one fetus nor in the amniocytes from the other fetus. Both pregnancies were continued, and the resulting children were healthy at two years and five years of age. prenatal diagnosis of this mitochondrial dna mutation is an option likely to be acceptable to some families to prevent the birth of a child at high risk for neurological disease.- - - - - - - - - - ranking = 0.33448499122008keywords = ataxia (Clic here for more details about this article) |
3/41. cauda equina syndrome due to lumbosacral arachnoid cysts in children.We describe the clinical, neuroradiological and surgical aspects of two children in whom symptoms attributable to cauda equina compression were caused by spinal arachnoid cysts. The first patient presented with recurrent urinary tract infections due to neurogenic bladder dysfunction, absent deep tendon reflexes and sensory deficit in the lower limbs. The second child presented with unstable gait as a result of weakness and diminished sensation in the lower extremities. Spinal magnetic resonance imaging revealed a lumbosacral arachnoid cyst in both patients. During surgery the cysts were identified and excised. Two years after surgery, the sensory deficits of the first patient have disappeared and patellar and ankle reflexes can be elicited, but there is no improvement in bladder function. Neurological examination of the second patient was normal. We conclude that the diagnosis of cauda equina syndrome should prompt a vigorous search for its aetiology. Lumbosacral arachnoid cysts are a rare cause of cauda equina syndrome in children.- - - - - - - - - - ranking = 1keywords = gait (Clic here for more details about this article) |
4/41. Expansion of Chiari I-associated syringomyelia after posterior-fossa decompression.Chiari I malformation (CMI) is an abnormality that involves caudal herniation of the cerebellar tonsils into the foramen magnum. CMI has been shown to be closely associated with the development of syringomyelia (SM). OBJECTS: Several theories have emerged to explain the apparent correlation between the existence of CMI with subsequent development of SM. However, the exact mechanism of the evolution of SM is still subject to controversy. We report here the case of a 12-year-old girl admitted to hospital with headache, vomiting, ataxia, and moderate pyramidal signs. methods: Radiological evaluation revealed the presence of CMI, accompanied by a small SM. The patient underwent posterior fossa decompression and improved significantly. She was re-admitted 6 months later with clinical evidence of progressive spinal cord dysfunction. MR revealed gross expansion of the syrinx. CONCLUSIONS: This case raises questions regarding the pathophysiology of CMI and its association with SM. The case indicates the need for neurological and radiological follow-up for patients undergoing posterior fossa decompression due to CMI, even for those without an initial syrinx. This is the first report known to us of expansion of a syrinx following decompression of an associated CMI.- - - - - - - - - - ranking = 0.33448499122008keywords = ataxia (Clic here for more details about this article) |
5/41. Glomangiopericytoma causing oncogenic osteomalacia. A case report with immunohistochemical analysis.A 47-year-old woman suffered from gait disturbance due to back pain and muscle weakness. Laboratory data showed serum hypophosphatemia, elevated alkaline phosphatase, and a normal level of ionized calcium. Radiological examinations revealed multiple pathologic fractures in the ribs and pubic rami. She had had no episode of familial or any other notable disorder, and so she was initially treated with medication for adult-onset osteomalacia. However, 19 years later (when she was 66 years old), she noticed a soft-tissue tumor in her buttock. The tumor was excised. The histological features were those of glomangiopericytoma characterized by both glomus tumor-like and hemangiopericytoma-like structures. After removal of the tumor, her symptoms disappeared immediately. Laboratory data normalized 8 months later. To our knowledge, this is the first report of oncogenic osteomalacia caused by glomangiopericytoma.- - - - - - - - - - ranking = 1keywords = gait (Clic here for more details about this article) |
6/41. Atypical presentation of dopa-responsive dystonia: generalized hypotonia and proximal weakness.Dopa-responsive dystonia (DRD) is an autosomal dominant disorder typically presenting as dystonia with diurnal variability. Described is an 8-year-old boy who had had waddling gait, generalized hypotonia, and proximal weakness since early childhood. He responded well to low-dose L-dopa. He had a point mutation of the gtp cyclohydrolase I gene. The patient's father and sister had the same mutation but did not have proximal weakness. gtp cyclohydrolase I deficiency can present with hypotonia and weakness.- - - - - - - - - - ranking = 1keywords = gait (Clic here for more details about this article) |
7/41. Isolated late-onset cone-rod dystrophy revealing a familial neurogenic muscle weakness, ataxia, and retinitis pigmentosa syndrome with the T8993G mitochondrial mutation.PURPOSE: To report a late-onset cone-rod dystrophy that revealed a familial neurogenic muscle weakness, ataxia, and retinitis pigmentosa syndrome as a consequence of the T8993G mitochondrial mutation. methods: Observational case series. A 42-year-old female disclosed a late-onset retinal dystrophy. The family history revealed that her three sons, one of them deceased at the age of 4, had mental and neurologic impairment of variable severity. The retinal dystrophy of the mother was classified as a cone-rod dystrophy. Retinal dystrophy was subsequently diagnosed in the two surviving sons. Screening for mutation in the mitochondrial dna (mtDNA) was performed because of the combination of neurologic involvement and retinal dystrophy in this family. RESULTS: Molecular analysis of the mtDNA revealed the ATPase-6 gene T8993G mutation in the mother and the two sons. CONCLUSION: This family illustrates the remarkably variable expression of retinal and systemic manifestations related to the T8993G mutation ranging from an isolated late-onset cone-rod dystrophy to a severe neurodegenerative process with a dramatic outcome. genetic counseling for retinal dystrophies requires careful evaluation of the familial medical history.- - - - - - - - - - ranking = 1.6724249561004keywords = ataxia (Clic here for more details about this article) |
8/41. Management of a patient with post-polio syndrome.PURPOSE: To describe the current understanding of the management of patients with post-polio syndrome (PPS) and relate the research to a case study. DATA SOURCES: Standard neurology textbooks, current review and research articles, and a case study. CONCLUSIONS: More than 15 years following a diagnosis of poliomyelitis, a new onset of weakness, fatigue, joint pain, decreased endurance, muscle atrophy, gait disturbance, respiratory and swallowing problems, cold intolerance, and difficulties with activities of daily living might indicate a neurologic disorder called PPS. IMPLICATIONS FOR PRACTICE: Non-post-polio causes of weakness, fatigue or pain must be excluded before making a diagnosis of PPS. Approaches to management vary depending on the symptoms and level of disability. Reducing physical and emotional stress, energy conservation, adequate rest, modification of work and home environments, joint protection, and the use of orthoses, adaptive equipment, or mobility aids can reduce fatigue and preserve function.- - - - - - - - - - ranking = 1keywords = gait (Clic here for more details about this article) |
9/41. Motor weakness and cerebellar ataxia in Sjogren syndrome--identification of antineuronal antibody: a case report.We report here a combination of rare neurological manifestations of primary Sjogren syndrome (SS), such as motor-dominant motor weakness of peripheral origin, cerebellar ataxia and depression, in a Japanese female patient. An autoantibody in her serum and cerebrospinal fluid immunolabelled spinal motor neurons and cerebellar purkinje cells. On Western blot, this antibody reacted with a protein of 34 kDa from the extract of spinal cord, dorsal root ganglion, or cerebellar cortex, which might correspond to motor weakness and cerebellar ataxia, respectively. The absence of its reactivity to the liver tissue indicates that this autoantibody targets an antigen represented exclusively in the neural tissues. Although it remains to be proved how autoantibodies, sometimes associated with SS, are involved in the development of clinical pictures, some of them are present in the cerebrospinal fluid and exhibit an exclusive affinity to neural tissues, which indicates its plausible link to neurological manifestations. Recognition of these antineuronal antibodies in SS will potentially provide a chance to treat these patients by removing or inactivating the antibody.- - - - - - - - - - ranking = 2.0069099473205keywords = ataxia (Clic here for more details about this article) |
10/41. lithium neurotoxicity: the development of irreversible neurological impairment despite standard monitoring of serum lithium levels.We report the case of a 44 year old man who presented with a two-month history of dysarthria, ataxia and leg weakness whilst on maintenance lithium for bipolar disorder. Examination revealed significant cerebellar and pyramidal dysfunction. serum lithium was 1.5 mmol/l, a moderate elevation above his usual stable levels of 0.4-0.8 mmol/l. The patient's past history included hypertension and chronic renal impairment and the development of neurological symptoms coincided with the recent onset of heart failure. On cessation of lithium he partially recovered, the main residuum being persistent cerebellar ataxia. The case is an example of lithium neurotoxicity developing insidiously in the absence of an overt acute phase syndrome, and highlights the need for keen observation of the patient in the hope of preventing permanent deficits.- - - - - - - - - - ranking = 0.66896998244017keywords = ataxia (Clic here for more details about this article) |
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